Alar cartilages hypoplasia-coloboma-telecanthus syndrome
ORPHA:2007· ICD-10 Q75.8
Definition
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal